eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| joubert syndrome with orofaciodigital defect | ||||
| Disease ID | 1451 |
|---|---|
| Disease | joubert syndrome with orofaciodigital defect |
| Definition | A rare, autosomal recessive syndrome characterized by orofacial anomalies, metacarpal abnormalities with central polydactyly, and cerebellar dysgenesis. |
| Synonym | joubert syndrome with oro-facial-digital syndrome joubert syndrome with orofaciodigital defect (disorder) ofd6 ofds vi oral-facial-digital syndrome, type 6 oral-facial-digital syndrome, type vi orofaciodigital syndrome 6 orofaciodigital syndrome type 6 orofaciodigital syndrome vi polydactyly, cleft lip-palate or lingual lump, and psychomotor retardation polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation varadi papp syndrome varadi syndrome varadi-papp syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C2745997 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:6) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:12) 392509 | ARL13A | 5.518 | DISEASES 200894 | ARL13B | 4.127 | DISEASES 65250 | C5orf42 | 4.944 | DISEASES 8814 | CDKL1 | 4.949 | DISEASES 8999 | CDKL2 | 5.199 | DISEASES 80184 | CEP290 | 3.343 | DISEASES 57096 | RPGRIP1 | 3.515 | DISEASES 23322 | RPGRIP1L | 3.514 | DISEASES 79600 | TCTN1 | 4.793 | DISEASES 200728 | TMEM17 | 6.307 | DISEASES 79583 | TMEM231 | 5.488 | DISEASES 283232 | TMEM80 | 6.129 | DISEASES |
| Locus | Symbol | Locus(Total Locus:7) |
| Disease ID | 1451 |
|---|---|
| Disease | joubert syndrome with orofaciodigital defect |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1451 |
|---|---|
| Disease | joubert syndrome with orofaciodigital defect |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs375009168 | NA | 65250 | C5orf42 | umls:C2745997 | CLINVAR | NA | 0.240271442 | NA | C5orf42 | 5 | 37201718 | G | A,T |
| rs606231258 | NA | 65250 | C5orf42 | umls:C2745997 | CLINVAR | NA | 0.240271442 | NA | C5orf42 | 5 | 37205455 | C | A |
| rs606231259 | NA | 65250 | C5orf42 | umls:C2745997 | CLINVAR | NA | 0.240271442 | NA | C5orf42 | 5 | 37244452 | T | - |
| rs606231260 | NA | 65250 | C5orf42 | umls:C2745997 | CLINVAR | NA | 0.240271442 | NA | C5orf42 | 5 | 37201810 | T | C |
| rs606231261 | NA | 65250 | C5orf42 | umls:C2745997 | CLINVAR | NA | 0.240271442 | NA | C5orf42 | 5 | 37187795 | C | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1451 |
|---|---|
| Disease | joubert syndrome with orofaciodigital defect |
| Case | (Waiting for update.) |